NM_020427.3:c.296G>A

HGVS Expressions

  • NG_011494.1:g.6253G>A
  • NM_020427.3:c.296G>A
  • NP_065160.1:p.Cys99Tyr
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Genomic Location

chr8:142741159

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4607

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248300.8.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003
248300.8.2Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Sister of 248300.8.1
248300.8.3Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Brother of 248300.8.1
248300.8.4Tunisia1Charfeddine et al. 2003 Father of 248300.8.1
248300.8.5Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003 Mother of 248300.8.1
248300.9.1Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003
248300.9.2Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Double first cousin of 248300.9.1
248300.9.3Tunisia2PathogenicMal de MeledaCharfeddine et al. 2003 Double first cousin of 248300.9.1, Siste...
248300.9.4Tunisia1Charfeddine et al. 2003 Father of 248300.9.1
248300.9.5Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003; Mokni et al. 2004 Mother of 248300.9.1
248300.9.6Tunisia1Charfeddine et al. 2003 Father of 248300.9.2 and 248300.9.3
248300.9.7Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003; Mokni et al. 2004 Mother of 248300.9.2 and 248300.9.3
248300.9.8Tunisia1PathogenicMal de MeledaCharfeddine et al. 2003; Mokni et al. 2004 Sister of 248300.9.1
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